Molecular Genetics of Arrhythmogenic Right Ventricular Cardiomyopathy
Molecular Genetics of Arrhythmogenic Right Ventricular Cardiomyopathy
复制标题
致心律失常性右室心肌病的分子遗传学
DOI：
10.1007/978-3-642-57724-6_6
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发表时间：
2000
期刊：
影响因子：
--
通讯作者：
G. Danieli
中科院分区：
文献类型：
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作者：
A. Rampazzo;A. Nava;M. Miorin;N. Tiso;G. Thiene;G. Danieli
心律失常性右室心肌病/心功能障碍（ARVD）是一种家族性心肌病，以纤维脂肪替代右室心肌为特征。临床表现包括右心室结构和功能异常及心律失常。它是作为常染色体显性性状遗传的。目前已定位到4个位点：染色体14q24.3上的ARVD1，染色体1q42-q43上的ARVD2，染色体14q12-q22上的ARVD3，染色体2q32.1-q32.3上的ARVD4。一种罕见的常染色体隐性遗传形式，与弥漫性非表皮松解性掌面角化病和毛质（纳克索斯病）相关，定位于染色体17q21。虽然还没有基因被鉴定，但ARVD位点的鉴定和几个DNA多态性标记的接近性，为通过DNA分析检测ARVD携带者的症状前检测开辟了道路。
Arrhythmogenic right ventricular cardiomyopathy/dyspalsia (ARVD), a familial cardiomyopathy, is characterized by fibro-fatty replacement of the right ventricular myocardium. Clinical manifestations include structural and functional abnormalities of the right ventricle and arrhythmias.It is inherited as an autosomal dominant trait. Four loci have been mapped so far: ARVD1 on chromosome 14q24.3, ARVD2 on chromosome 1q42-q43, ARVD3 on chromosome 14q12-q22, and ARVD4 on chromosome 2q32.1-q32.3. A rare form with an autosomal recessive mode of inheritance, associated with diffuse nonepidermolytic palmoplanar keratoderma and wooly hair (Naxos disease) was mapped to chromosome 17q21.Although no gene has yet been identified, the identification of ARVD loci and the availability of several DNA polymorphic markers in their close proximity, open the way to the pre-symptomatic detection of ARVD carriers by DNA analysis.